Severe Bilateral Sensorineural Hearing Loss Research Articles

Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1.

Heimler syndrome (HS) is a rare disorder that includes sensorineural hearing loss (SNHL), nail abnormalities, and enamel hypoplasia. Patients with this syndrome can also exhibit ocular manifestations. At present, only a few cases of HS have been reported, existing knowledge of this syndrome is limited, and many cases have been misdiagnosed or even missed. This is the first report of Heimler syndrome with blurred vision as the first complaint, which was diagnosed by genetic analysis in the ophthalmology department. An 8-year-old girl complained of bilateral visual blur and night blindness from birth. Ophthalmic examinations revealed bilateral retinitis pigmentosa with cystoid macular edema, visual impairment with hyperopia and astigmatism. Hearing test revealed bilateral severe sensorineural hearing loss. Dental examinations revealed enamel hypoplasia. In addition, whole-exome sequencing (WES) identified two pathogenic variants in PEX1: the previously reported missense variant c.2966T > C (p.I989 T), and the novel frameshift variant c.1671_1672del (p.G558Sfs*33). Heimler syndrome is caused by compound heterozygous PEX1 pathogenic variants, c.2966T > C (p.I989 T) and c.1671_1672del (p.G558Sfs*33), which contributed to the diversity of clinical and genetic profiles in this patient. The main clinical manifestations include bilateral retinitis pigmentosa with cystoid macular edema, sensorineural hearing loss, and enamel hypoplasia. Systemic examinations are suggested for patients suspected of having pigmentary retinal dystrophy, especially combined with hearing-related impairments. Genetic testing can help us to make a definitive diagnosis.

Cochlear Implantation in Inner Ear Malformations

Introduction: Cochlear Implantation (CI) has proven to be an effective treatment for severe bilateral Sensorineural Hearing Loss (SNHL). Inner ear malformation is a rare anomaly and occurs in approximately 20% of cases with congenital SNHL. There are particular challenges in the implantation of malformed cochleae, such as in cases of facial nerve anomalies, Cerebrospinal Fluid (CSF) leaks or facial stimulation, and the outcomes may differ depending on the severity of the malformation. The aim of this study was to assess the impact of Inner Ear Malformations (IEMs) on surgical complications and outcomes of cochlear implantation. Methods: Between 2018 and 2022, 9 patients with inner ear malformations were implanted in our department and completed at least 1 year of follow-up. The age range was between 2 years and 4 months and 5 years (average, 3.36 yr). Auditory performance, receptive and expressive language skills, and production and use of speech were evaluated preoperatively and at least 1 year after implantation. Results: In the study group, the most common malformation was an isolated Enlarged Vestibular Aqueduct (EVA) (55,5%). Overall, the patients with IEMs showed significant improvement in auditory-verbal skills. In general, the patients who had normal cochleae scored significantly better compared to patients with IEMs. Conclusion: Based on these findings, cochlear implantation is surgically feasible in patients with common cavity, IP types I and II, and EVA. The surgeon should be ready to make modifications in the surgical approach because of the abnormal course of the facial nerve and be ready to produce special precautions to cerebrospinal fluid gusher. Patients with EVA were the best performers in terms of auditory-verbal skills.

Wildervanck syndrome: case report from a tertiary care centre

One suspected case of Wildervanck syndrome (OMIM 314600) reported from our tertiary care centre. Wildervanck syndrome is distinct from other similar conditions due to its opthal and hearing associations-forming a clinical triad. Candidate gene identification in Wildervanck syndrome is still pending whereas most other similar genetic conditions has got a specific gene mutation. Klippel Feil anomaly suspected one girl admitted in our centre with severe pneumonia showed features of short neck, fusion of cervical spines and Sprengel deformity. Detailed examination showed bilateral severe sensorineural hearing loss, Duane eye movement with other novel associations not described in literature. We clinically suspected Wildervanck syndrome and did molecular testing. Being clinicians, it is our responsibility to report new associations and clinical findings and thus broaden the phenotype. Since it is a highly infrequent disorder, discussed in detail here.

Role of Voice Handicap Index in Evaluation of Patients with Moderate to Severe Bilateral Sensorineural Hearing Loss.

Our ability to hear and speak enables us to communicate with others, forming an integral part of our emotional and social well-being. Vocal problems in hearing-impaired patients have yet to be assessed in terms of subjective level of disability they cause. Present study aims to assess the different Voice Handicap Index (VHI) scores among patients with moderate to severe sensorineural hearing loss and compare them to those with normal hearing. In this prospective case control study(n = 150), study group A (n = 100) consisted of subjects with bilateral moderate to profound hearing loss on Pure tone audiometry and control group B (n = 50) with normal hearing. Both groups were asked to fill out VHI form after a normal videostroboscopic assessment. Mean VHI score in group A was 57.5 ± 12.48 and 6.0 ± 3.24 in group B, difference being statistically significant. A strong positive correlation was found between severity of hearing loss and VHI total score. The difference between both groups was also statistically significant for each of the three subscales of VHI. We infer that subjects with moderate and higher bilateral sensorineural hearing loss hearing have statistically significant higher VHI scores as compared to those with normal hearing. It was observed that perception of voice handicap increased with the severity of hearing loss. These findings emphasize the need for multilateral assessment and treatment of voice disorders in subjects with hearing loss.

Is intrauterine exposure to COVID-19 infection a risk factor for infant hearing loss?

PurposeTo determine whether exposure to intrauterine COVID-19 infection causes congenital or late-onset hearing loss in infants. Material and methodThe hearing screening results of infants born in a tertiary hospital between March 2020 and April 2022 with and without a history of intrauterine exposure to COVID-19 infection (36 infants each) were retrospectively analyzed within one month after birth in all infants and additionally at six months after intrauterine COVID-19 infection exposure in the study group. The automated auditory brainstem response (AABR) test was used for the hearing evaluation. ResultsThe polymerase chain reaction test was negative in study group exposed to intrauterine COVID-19 infection. The number of infants admitted to the intensive care unit (ICU), and the length of ICU stay were significantly higher in this group (p < 0.01). Six infants (16.6 %) in the study group failed the first AABR test bilaterally, but five of these infants passed the second AABR test. A bilateral severe sensorineural hearing loss was detected in one infant (2.77 %). All the infants in the study group underwent the AABR test again at six months, and all infants, except this infant, passed the test. In the control group, five infants (13.88 %) failed the first AABR test bilaterally, but they all passed the second test. ConclusionsExposure to COVID-19 infection in the intrauterine period does not cause congenital or late-onset hearing loss (within six months) in infants; therefore, gestational COVID-19 infection is not a risk factor for infant hearing loss.

Is social appearance anxiety a reason for rejecting a hearing aid in geriatric patients?

Hearing impairment is a global health problem due to its impact on quality of life and communication problems between individuals. Hearing aids are the recommended intervention, but use of hearing aids is low. In this study, the effect of social appearance anxiety on the decision to use a hearing aid was investigated. The study comprised 107 individuals aged 65-81 years who were offered hearing aids due to bilateral severe or moderate sensorineural hearing loss. The patients were divided into three groups, according to their hearing aid preferences and usage decisions. Social appearance anxiety scale was applied to all patients. The mean age of the 107 patients included in the study was 70.19±5.35 years. The social appearance anxiety scores of those who did not want to use a hearing aid were much higher than those of whom desired to use a behind-the-ear or in-canal hearing aid. The social appearance anxiety scores of the patients who wanted to use in-canal hearing aids were also higher than the group who wanted to use behind-the-ear hearing aids. In this study, which focused on the hearing aid candidate group who had never obtained a device, rather than why they stopped using a hearing aid, it was assumed that social appearance concern was relevant in the phase of receiving a hearing aid.

Prevalence of Hearing Impairment in High-Risk Neonates at Kalaburagi Region of Northern Karnataka: A Hospital-Based Cross-Sectional Study.

The studyestimated the prevalence of hearing impairment in high-risk neonates and effect of high-risk factors on the hearing. A hospital-based cross sectional study was conducted on 327 neonates with high-risk factors. All the high-risk babies were screened using TEOAE and AABR followed by diagnostic ABR testing. Six (2%) of high-risk neonates werefound to have bilateral severe sensorineuralhearing loss. Risk factors associated with hearing impairment include multiple risk factors of Preterm delivery, hyperbilirubinemia, congenital anomalies, neonatal sepsis, viral or bacterial infection, positive family history of hearing loss and prolonged NICU stay. Further, the inclusion of AABR along with TEOAE has been shown to be a useful tool in reducing false-positive rates and identifying hearing loss.

Granulomatosis with polyangiitis in a patient with polydipsia, facial nerve paralysis, and severe otologic complaints: a case report and review of the literature

BackgroundGranulomatosis with polyangiitis, formerly known as Wegener granulomatosis, is a necrotizing vasculitis with granulomatous inflammation that belongs to the class of antineutrophil cytoplasmic antibodies-positive diseases. It occurs in a localized and a systemic form and may present with a variety of symptoms. Involvement of the upper respiratory tract is very common, while neurologic, endocrinological, and nephrological dysfunction may occur.Case presentationWe describe the case of a 29-year-old Central European male patient presenting with severe bilateral sensorineural hearing loss, otorrhea, and one-sided facial nerve paralysis. The patient was unsuccessfully treated with i.v. antibiotics at another hospital in Berlin, and tympanic tubes were inserted. After presentation to our emergency room, he was hospitalized and further diagnostics started. Increased fluid intake and 12 kg weight gain over the last months were reported. The patient was diagnosed with granulomatosis with polyangiitis and diabetes insipidus. The patient’s condition improved after treatment with rituximab.DiscussionA comprehensive PubMed search of all articles with granulomatosis with polyangiitis and diabetes insipidus was conducted to assess which combination of symptoms occurs simultaneously and whether other parts of the pituitary are commonly involved. The 39 selected articles, describing 61 patients, showed that ear–nose–throat involvement occurred most commonly, in 71% of cases. Of patients, 59% had involvement of the anterior pituitary gland, while true panhypopituitarism occurred in 13% of cases. Only one case report featured the same set of symptoms as described herein.ConclusionGranulomatosis with polyangiitis is a highly variable disease, commonly involving the upper airways, but that may present with symptoms solely related to the pituitary gland. Clinicians should have a low threshold to investigate for granulomatosis with polyangiitis in patients with therapy-resistant otorrhea. Patients may present with a complex set of symptoms, and integrating different specialists when additional symptoms occur may lead to faster diagnosis.

Long QT and Hearing Loss in High-Risk Infants Prospective Study Registry.

The objective of this study is to determine the prevalence of an abnormal electrocardiogram showing a prolonged QTc greater than 450ms in infants with unilateral or bilateral sensorineural hearing loss. We conducted a prospective study of healthy term infants (≥37weeks gestational age) who failed their newborn auditory brainstem response hearing screen, were seen by an audiologist and diagnosed as having sensorineural hearing loss during follow-up to 1 year of age. In infants with a diagnosis of hearing loss, we collected a detailed family history and performed an ECG between 2 and 6months of age. We obtained follow-up for 1year by calling the parent requesting the hearing and cardiac status of their child. Two of the 40 infants with sensorineural hearing loss (5%) had a QTc greater than 450ms. Both had mild bilateral hearing loss and genetic testing did not identify a known mutation for long QT syndrome. The remaining 38 infants had QTc intervals of ≤ 450ms. One patient diagnosed with bilateral severe sensorineural hearing loss had a normal ECG (QTc = 417ms). Several months after the ECG was performed, the infant's mother contacted the study cardiologist after she learned that the infant's maternal grandmother was diagnosed with a cardiomyopathy and arrhythmias. Genetic testing was recommended even though the child was asymptomatic and was positive for a pathogenic mutation in the KCNQ1 gene. We speculate that molecular genetic testing in infants with hearing loss may become the standard of care rather than targeted electrocardiograms.Clinical Trial Registration NCT02082431 https://www.clinicaltrials.gov/ct2/show/NCT02692521?cond=NCT02692521&rank=1 .

Применение регистрации стационарных слуховых потенциалов в свободном звуковом поле у слепоглухого ребенка

Deafblindness is a rare disease in which a person has a combination of hearing loss and vision loss, resulting in reduced access to both auditory and visual information. There are many reasons to occur of deafblindness: hereditary syndromes/disorders (CHARGE syndrome, Usher’s syndrome, Down’s syndrome), diseases that occurred before childbirth (cytomegalovirus, hydrocephalus, microcephaly), etc. The article presents a clinical case of an 11-year-old patient with a diagnosis of severe bilateral sensorineural hearing loss, condition after cochlear implantation on the right in 2012. Retinopathy of prematurity of the 5th degree, total retinal detachment with severe intraretinal proliferation. Infantile cerebral palsy. Hyperhomocysteinemia. Mitochondrial dysfunction. Casein intolerance. Persistent viral infection of Herpes Simplex Virus (HSV) type 6, Epstein–Barr virus (EBV). The authors showed a method for fitting the cochlear implant (CI) processor in a deaf-blind child by assessing the thresholds for perceiving sounds at different speech frequencies (500 Hz–4,000 Hz), which is the registration via Auditory Steady State Response (ASSR) to acoustic stimuli delivered through loudspeakers to an activated cochlear implant processor.

Salvaging Exposed Cochlear Implants.

Background:The cochlear implant (CI) procedure is one of the most efficient surgical options for the management of patients suffering from severe bilateral sensorineural hearing loss. Notably, CI exposure is one of the most commonly reported complications. Herein, we report our experience in the management of three patients with CIs complicated by implant exposure.Methods:We present a retrospective review-based case series of three patients with exposed CIs requiring soft tissue coverage who were referred to plastic surgery care. These patients underwent their CI procedures at a university hospital specializing in ear, nose, and throat, after which they were referred for plastic surgery care at our university hospital for reconstruction after exposure. Each patient was managed through different surgical techniques based on the size, site, and condition of the surrounding tissue. The management options are discussed in this article.Results:Three patients with exposed cochlear implants were treated with different surgical techniques. During the 1-year follow-up period, the patients made an uneventful recovery with fully functional cochlear implants.Conclusions:The management of CI extrusion with local scalp flaps can constitute an effective and reliable option to salvage CI with a good prognosis and a lower incidence of exposure recurrence. Optimal results for establishing effective soft tissue coverage can be achieved by choosing the appropriate technique according to the clinical presentation.

Hearing loss and intellectual outcome in children treated for embryonal brain tumors: Implications for young children treated with radiation sparing approaches.

PurposeWe investigate the impact of severe sensorineural hearing loss (SNHL) and for the first time evaluate the effect of unilateral versus bilateral SNHL on intellectual outcome in a cohort of children with embryonal brain tumors treated with and without radiation.MethodsData were from 94 childhood survivors of posterior fossa (PF) embryonal brain tumors who were treated with either: (1) chemotherapy alone (n = 16, 7.11 [3.41] years, 11M/5F), (2) standard‐dose craniospinal irradiation (CSI) and/or large boost volumes (n = 44, 13.05 [3.26] years, 29M/15F), or (3) reduced‐dose CSI with a boost restricted to the tumor bed (n = 34, 11.07 [3.80] years, 19M/15F). We compared intellectual outcome between children who: (1) did and did not develop SNHL and (2) developed unilateral versus bilateral SNHL. A Chang grade of ≥2b that required the use of a hearing aid was considered severe SNHL. Comparisons were made overall and within each treatment group separately.ResultsPatients who developed SNHL had lower full scale IQ (p = 0.007), verbal comprehension (p = 0.003), and working memory (p = 0.02) than patients without SNHL. No differences were observed between patients who had unilateral versus bilateral SNHL (all p > 0.05). Patients treated with chemotherapy alone who developed SNHL had lower mean working memory (p = 0.03) than patients who did not develop SNHL. Among patients treated with CSI, no IQ indices differed between those with and without SNHL (all p > 0.05).ConclusionsChildren treated for embryonal brain tumors who develop severe SNHL have lower intellectual outcome than patients with preserved hearing: this association is especially profound in young children treated with radiation sparing approaches. We also demonstrate that intellectual outcome is similarly impaired in patients who develop unilateral versus bilateral SNHL. These findings suggest that early intervention to preserve hearing is critical.

Developmental outcomes of young deaf children and the self-perceived parental role of their hearing mothers

BackgroundThere is little research into the relationship between a deaf child's developmental outcomes and their mother's self-perceived parental role. The aim of this study was to find out whether the different levels of global psychomotor development in young deaf children who had a cochlear implant (CI), or were candidates for a CI, were related to particular family factors: the self-perceived parental role and the family quality of life (FQoL) as gauged by their hearing mothers, as well as the child's sociodemographic and deafness-related factors and the sociodemographic characteristics of the mothers. MethodsThe study was conducted on a group of 64 children with bilateral severe or profound sensorineural hearing loss (SNHL) who were CI users (36 children) or qualified for cochlear implantation (28 children) and their hearing mothers. The age of the children ranged from 6.5 to 47 months (M = 23.6; SD = 10.1), among whom 55% were girls (n = 35). The mothers of the children were aged 24–48 years (M = 32.7; SD = 5.3). Information was collected via the Children Development Scale (CDS), the Self-Perception of Parental Role (S-PPR), the Family Quality of Life Survey (FQOLS-2006), and an additional information questionnaire which included questions about sociodemographic variables of the child and the mother, as well as questions related to deafness, the CI, and the child's rehabilitation. ResultsBased on results of the CDS, the deaf children were divided into two groups: those who had a low level of global psychomotor development (Low global psychomotor development subgroup – LGPD) and others with medium or high scores (Medium/high global psychomotor development subgroup – MHGPD). The mothers of deaf children in the LGPD group assessed their investment in motherhood lower than did mothers from the MHGPD group. The mothers of the LGPD group rated their satisfaction with the child's rehabilitation lower than did mothers from the MHGPD group. The two subgroups did not differ in FQOLS-2006 domains except for community interactions, which were significantly higher in the MHGPD families. ConclusionsAmong the determinants of the global psychomotor development of a young deaf child, the most important ones relate to the use of a CI, but maternal investment in parenting is also important. Community interactions of the family with a deaf child are also crucial, as they create a framework for social network and support for the deaf child's optimal development. Any psychological diagnosis should include, apart from psychomotor development of the deaf child, an assessment of how the mother is coping with their parenting. Mothers of deaf children, especially those with LPGD, need additional support in parenting.

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report

BackgroundStress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive disorder caused by defects in the ADP-Ribosylhydrolase Like 2 (ADPRHL2; OMIM: 618170) gene. This gene encodes the ADP-ribosylhydrolase enzyme (ARH3) that eliminates the addition of poly-ADP ribose (PAR) in the cellular stress onto proteins in the ADP-ribosylation process in which adding one or more ADP-ribose moieties onto the target proteins in the post-translational modification have occurred. In this study, we report a new case of CONDSIAS in the Iranian population. A literature review of CONDSIAS is also included.Case presentationA four-year-old female patient, born to a consanguineous Iranian family, was referred with various clinical symptoms including impaired speech, variable ataxia, infrequent seizures, and gradual onset of truncal hypotonia. Over time, she developed complete motor and speech regression, bilateral sensorineural hearing loss, infrequent seizures, abdominal distension and gastrointestinal (GI) intolerance, and loss of consciousness. To better molecularly diagnose, trio-whole-exome sequencing (WES) was performed on the proband and her parents. Sanger sequencing was also applied to investigate co-segregation analysis. Using in silico predictive tools, the possible impacts of the variant on the structure and function of ADPRHL2 protein were predicted. All basic metabolic tests were normal, while serial coronal magnetic resonance imaging (MRI) showed progressive cerebral and cerebellar atrophy in addition to cerebral white matter signal changes as a novel neuroimaging finding. GI intolerance was another novelty of clinical scenarios in the patient. An auditory brainstem response test showed a severe bilateral sensorineural hearing loss. An electroencephalogram also confirmed focal seizures. From the molecular perspective, a novel homozygous frameshift variant in the ADPRHL2 gene (NM_017825.2; c.636_639del, p.(Leu212fs)) was identified by WES.ConclusionsCONDSIAS is an ultra-rare neurodegenerative disorder. In the present study, we introduced extra-neurological and neuroimaging findings of this disorder in a female child caused by a novel frameshift variation in the ADPRHL2 gene.

Juvenile Paget’s disease: Report of a family with a novel missense mutation and unique radiological manifestations in a heterozygote

Abstract Juvenile Paget’s disease (JPD) is a rare, generalized skeletal disorder characterized by markedly increased bone turnover secondary to enhanced osteoclastic activity. The patients with JPD develop progressive, widespread skeletal involvement and non-skeletal manifestations. Objectives To identify the characteristic molecular, biochemical, radiological, and audiological findings in three siblings with JPD associated with intrafamilial phenotypic variability. Patients and Methods A Saudi family with 3 affected siblings was recruited. Biochemical measurement of serum alkaline phosphatase and markers of bone turnover were performed. Genetic testing and sequencing of a panel of 22 known genes for skeletal dysplasia with increase bone density were performed by next generation sequencing (NGS). Radiological and audiological assessment were also performed. Results Patients showed marked elevation of serum alkaline phosphatase and markers of bone turnover. A novel homozygous mutation c.433T&amp;gt;G (p.Cys145Gly) in exon 3 of TNFRSF11B gene was identified in the 3 affected siblings. Both parents were heterozygous for the mutation. The heterozygote father had thickening of calvarium, a radiological manifestation of JPD. The eldest child (index case) had a unique striking distortion of the skull bones as evidenced by 3-D computed tomography of skull. He had also bilateral inner ear structural deformity and severe sensorineural hearing loss. Conclusions: JPD is a rare disorder that can be highly overlooked due to phenotypic overlap with other disorders of skeletal dysplasia. Mutations affecting cysteine residues result in the most severe JPD phenotypes. NGS is useful for early diagnosis of JPD, a prerequisite for successful treatment strategy.

Harel-Yoon syndrome: the first case report from Saudi Arabia

Background: Harel-Yoon syndrome (HAYOS) is a recently described, rare neurodevelopmental disorder characterized by developmental delay, hypotonia, appendicular hypertonia, axonal neuropathy, and other variable features, such as spasticity and optic atrophy. With only a few reports in the literature, both heterozygous and homozygous mutations have been reported in ATPase Family AAA Domain Containing 3A (ATAD3A). Case Presentation: Herein, we present the first case of HAYOS in Saudi Arabia. A 3-month-old girl presented with global developmental delay, hypotonia, bilateral severe sensorineural hearing loss, and vision impairment. Brain magnetic resonance imaging showed mild brain atrophy and delayed myelination. Laboratory tests showed high serum lactate and increased urinary excretion of 3-hydroxy methyl glutaconic acid. Whole exome sequencing revealed a pathogenic heterozygous variant in ATAD3A gene (c.1726C>T; p. R576W: NM_018188.4 or c.1582C>T; p. R528W: NM_001170535.1) which is the same recurrent variant reported in patients with the dominant form of HAYOS. Conclusion: Our report provides further evidence of the clinical relevance of ATAD3A gene variant (c. 1726C>T; p. R576W) in the pathogenesis of HAYOS. The therapeutic options for HAYOS are limited to supportive measures as in other mitochondrial diseases.

Effects of Bimodal and Bilateral Cochlear Implant Use on a Nonauditory Working Memory Task: Reading Span Tests Over 2 Years Following Cochlear Implantation.

Purpose A growing body of evidence indicates that treatment of hearing loss by provision of hearing aids leads to improvements in auditory and visual working memory. The purpose of this study was to assess whether similar working memory benefits are observed following provision of cochlear implants (CIs). Method Fifteen adults with postlingually acquired severe bilateral sensorineural hearing loss completed the prospective longitudinal study. Participants were candidates for bilateral cochlear implantation with some aidable hearing in each ear. Implantation surgeries were carried out sequentially, approximately 1 year apart. Working memory was measured with the visual Reading Span Test (Daneman & Carpenter, 1980) at 5 time points: pre-operatively following a 6-month bilateral hearing aid trial, after 6 and 12 months of bimodal (CI plus contralateral hearing aid) listening experience following the 1st CI surgery and activation, and again after 6 and 12 months of bilateral CI listening experience following the 2nd CI surgery and activation. Results Compared to the preoperative baseline, CI listening experience yielded significant improvements in participants' ability to recall test words in the correct serial order after 12 months in the bimodal condition. Individual performance outcomes were variable, but almost all participants showed increases in task performance over the course of the study. Conclusions These results suggest that, similar to appropriate interventions with hearing aids, treatment of hearing loss with CIs can yield working memory benefits. A likely mechanism is the freeing of cognitive resources previously devoted to effortful listening.

Analysis of MYO7A gene mutation in a family with non-syndromic autosomal recessive deafness

To explore the genetic basis for a family with non-syndromic autosomal recessive deafness. The proband and her parents were subjected to physical and audiological examinations. With genomic DNA extracted from peripheral blood samples, next-generation sequencing was carried out using a panel for deafness genes. Suspected mutation was validated by Sanger sequencing and qPCR analysis of her parents. The proband presented bilateral severe sensorineural hearing loss at three days after birth. Her auditory threshold was 110-120 dBnHL but with absence of vestibular and retinal symptoms. Her brother also had deafness but her parents were normal. No abnormality was found upon physical examination of her family members, while audiological examination showed no middle ear or retrocochlear diseases. Next-generation sequencing identified compound heterozygous mutations of the MYO7A gene, including a previously known c.462C>A (p. Cys154Ter) and a novel EX43_46 Del, which were respectively derived from her mother and father. The compound heterozygous mutations of the MYO7A gene probably underlie the disease in this family. Our findings has enriched the mutation spectrum for non-syndromic autosomal recessive deafness 2.

Effects of cochlear implants on otolith function as evaluated by vestibulo-ocular reflex and vestibular evoked myogenic potentials

ObjectiveThe aim of this study was to investigate whether the insertion of an implant into the cochlea is accompanied by a deterioration in otolith function. Cervical and ocular vestibular evoked myogenic potentials (cVEMP and oVEMP) and linear vestibulo-ocular reflex (lVOR) during eccentric rotation were assessed before and after cochlear implantation (CI) to evaluate otolith function. MethodsTwelve patients with bilateral severe sensorineural hearing loss who had undergone CI surgery in our hospital between May 2016 and November 2017 were included in this study. cVEMP and oVEMP were assessed using the asymmetry ratio (AR), calculated with the following formula: [(peak-to-peak amplitude calculated as the sum of the p13 and n23 amplitudes in the non-operated side) − (that in the operated side)]/[(that in the non-operated side) + (that in the operated side)]. The ratio of VOR gain during eccentric rotation against VOR gain during center rotation was used to assess lVOR. For eccentric rotation, patients were rotated while displaced from the axis of rotation. At the same time, linear acceleration stimulated the utricle and induced lVOR. All patients underwent cVEMP and oVEMP tests and center and eccentric rotation tests before and about 30days after CI surgery. ResultsThree patients with absent cVEMP responses before surgery were excluded, leaving pre-surgery cVEMP results for 9/12 patients. In five of these patients, the AR of cVEMP increased after CI, indicating that saccular function, as evaluated by cVEMP, did not deteriorate significantly postoperatively. One patient with an absent oVEMP response before CI was excluded, leaving pre-surgery oVEMP results for 11/12 patients. In 10 of these patients, the AR of oVEMP increased after CI surgery, indicating that utricular function, as evaluated by oVEMP, deteriorated significantly postoperatively. However, because the ratio of VOR gain during eccentric rotation against VOR gain during center rotation did not become worse after CI, utricular function, as evaluated by lVOR, did not deteriorate significantly postoperatively. Symptoms of vertigo became worse after CI in two of the 12 patients. ConclusionCI does not cause a deterioration in saccular function, as evaluated by cVEMP. Although CI does cause a deterioration in utricular function in oVEMP tests, this is not consistent in lVOR tests. These results indicate that CI causes a slight deterioration in utricular function that is insufficient to cause vertigo or deterioration of lVOR.

A Case of Pembrolizumab Induced Autoimmune Sensorineural Hearing Loss

increasingly used to treat a variety of cancers by enhancing the immune response against cancer cells. Pembrolizumab is a humanized antibody which prevents tumor cells from deactivating host T-cells. Like most forms of immunotherapy, many of the adverse effects are autoimmune in origin due to the heightened immune response. Case: We present a rare case of Pembrolizumab induced autoimmune hearing loss in a patient with invasive melanoma which was responsive to steroids. A 67-year-old male presented with metastatic melanoma of the toe. He underwent amputation followed by treatment with IV pembrolizumab 2 mg/kg every 3 weeks. After a single dose, he experienced severe bilateral sensorineural hearing loss. His treatments were stopped and he was started on oral steroids. He later also underwent intratympanic steroid injection. He ultimately achieved improvement to normal-to-mild hearing loss levels in conversational frequencies with subjective return to baseline hearing. According to the FDA, this is one of 14 reported cases of autoimmune hearing loss from Pembrolizumab. Conclusion: Autoimmune hearing loss is a rare, but significant adverse effect of Pembrolizumab treatment for advanced melanoma which is responsive to steroids started up to 4 weeks after onset. While heightened awareness of this response is necessary, we do not recommend routine audiograms in patients undergoing treatment.